Healthcare utilization and unmet needs of patients with antisynthetase syndrome: An international patient survey.

Antisynthease syndrome (ASSD) is a rare, complex and understudied autoimmune disease. Internet-based studies can overcome barriers of traditional on-site research and are therefore very appealing for rare diseases. The aim of this study was to investigate patient-reported symptoms, diagnostic delay, symptoms, medical care, health status, working status, disease knowledge and willingness to participate in research of ASSD patients by conducting an international web-based survey. The multilingual questionnaire was created by an international group of rheumatologists and patients and distributed online. 236 participants from 22 countries completed the survey. 184/236 (78.0%) were female, mean age (SD) was 49.6 years (11.3) and most common antisynthetase antibody was Jo-1 (169/236, 71.6%). 79/236 (33.5%) reported to work full-time. Median diagnostic delay was one year. The most common symptom at disease onset was fatigue 159/236 (67.4%), followed by myalgia 130/236 (55.1%). The complete triad of myositis, arthritis and lung involvement verified by a clinician was present in 42/236 (17.8%) at disease onset and in 88/236 (37.3%) during the disease course. 36/236 (15.3%) reported to have been diagnosed with fibromyalgia and 40/236 (16.3%) with depression. The most reported immunosuppressive treatments were oral corticosteroids 179/236 (75.9%), followed by rituximab 85/236 (36.0%). 73/236 (30.9%) had received physiotherapy treatment. 71/236 (30.1%) reported to know useful online information sources related to ASSD. 223/236 (94.5%) were willing to share health data for research purposes once a year. Our results reiterate that internet-based research is invaluable for cooperating with patients to foster knowledge in rare diseases.

Improvement in dyspareunia after vaginal mesh removal measured by a validated questionnaire.

INTRODUCTION AND HYPOTHESIS: The objective was to examine the effect of the surgical removal of vaginally placed prolapse and incontinence mesh on sexual function. We hypothesize that patients with painful complications of mesh will experience improvement in dyspareunia and sexual function after mesh removal. METHODS: The eligible cohort consisted of 133 women who presented with a new onset of pain attributed to mesh-augmented incontinence or prolapse surgery and who elected to undergo mesh removal between 1 August 2012 and 1 July 2013. Sexual function symptoms were assessed before and after mesh removal surgery using the Pelvic Organ Prolapse and Urinary Incontinence Sexual Function Questionnaire short form (PISQ-12). Multivariate analysis was performed to identify predictors of improvement in dyspareunia. RESULTS: Ninety-four patients undergoing mesh removal completed a pre-operative questionnaire, 63 of whom also completed a post-operative questionnaire. After mesh removal, there was a nearly 50% reduction in the proportion of women reporting always experiencing post-operative pain with intercourse among those experiencing pre-operative pain. There was a statistically significant quantitative improvement in pain with intercourse after mesh removal based on mean change score of PISQ-12 question 5 "How often do you experience pain with intercourse?". In multivariate analysis, only history of vaginal delivery was associated with symptom improvement. CONCLUSION: Removal of transvaginal prolapse mesh is associated with improvement in self-reported dyspareunia based on a standardized question on a validated instrument in a small cohort of women. Although larger studies are needed to confirm the relationship between mesh-augmented surgeries and post-procedural dyspareunia, these data suggest that consideration of mesh removal is a reasonable step for patients with painful intercourse attributed to mesh-augmented prolapse and incontinence surgeries.

A Randomized Study Comparing Endoscopic Third Ventriculostomy versus Ventriculoperitoneal Shunt in the Management of Hydrocephalus Due to Tuberculous Meningitis.

OBJECTIVES: The objective of this study was to compare safety and efficacy of endoscopic third ventriculostomy (ETV) versus ventriculoperitoneal (VP) shunt in the treatment of hydrocephalus in tuberculous meningitis (TBM) and to assess clinical and radiological profiles of patients with TBM that would be better suited to either VP shunt or ETV. METHODS: This study was a single-center randomized prospective study on 52 patients with TBM hydrocephalus in the pediatric age group (<18 years of age). Patients included in the study were randomized into undergo either VP shunt or ETV. Both groups were followed up for a minimum of 5 months and assessed for success and failure rates as well as procedural complications and neurologic sequelae. RESULTS: Twenty-six patients underwent ETV with a success rate of 65.4% with six of nine failures occurring within the first 16 days after surgery (median time to failure - 3 days). In the VP shunt group, there was a success rate of 61.54% and a median time to failure of 50 days. Modified Vellore grading was found to be a significant factor in determining outcome in both ETV and VP shunt groups with high-grade TBM consistently associated with poor outcome (odds ratio = 4.2). CONCLUSIONS: ETV can be performed effectively in young children including infants, as well as those with communicating hydrocephalus, high cerebrospinal fluid (CSF) cell counts, and protein levels with a lower rate of failure than that of VP shunt. Hence, ETV should be attempted as the first-choice CSF diversion procedure in hydrocephalus secondary to TBM where technical expertise and experience with this procedure is available as it avoids the myriad of lifelong complications associated with shunts.

Foramen Magnum Chordoid Meningioma in a 22-Year-old Female.

Chordoid meningioma is a rare variety of meningioma (0.5%-1%) with high rate of recurrence. They are grouped in WHO Grade II tumors. They are mainly distributed in the supratentorial location. There has been a single report of foramen magnum chordoid meningioma in a 3-year, 6-month-old child. Our patient, a 22-year-old female, admitted with progressive spastic quadriparesis with bowel and bladder involvement. She was operated with tumor resection done; postoperatively, patient showed dramatic improvement in the motor power as well as bowel and bladder function. Histopathology was suggestive of chordoid meningioma. She received 54 Gy of radiotherapy. She is doing well with no neurological deficits and no recurrence at 2-year follow-up.

Abnormal Blood Oxygen Level-Dependent Fluctuations in Focal Cortical Dysplasia and the Perilesional Zone: Initial Findings.

BACKGROUND AND PURPOSE: Focal cortical dysplasia is a common cause of intractable epilepsy for which neurosurgery is an option. Delineations of a focal cortical dysplasia lesion on structural brain images may not necessarily reflect the functional borders of normal tissue. Our objective was to determine whether abnormalities in spontaneous blood oxygen level-dependent fluctuations arise in focal cortical dysplasia lesions and proximal regions. MATERIALS AND METHODS: Fourteen patients with focal cortical dysplasia-related epilepsy and 16 healthy controls underwent structural and resting-state functional MR imaging. Three known blood oxygen level-dependent measures were determined, including the fractional amplitude of low-frequency fluctuations, regional homogeneity, and wavelet entropy. These measures were evaluated in the lesion and perilesional zone and normalized to the contralateral cortex of patients with focal cortical dysplasia and healthy controls. RESULTS: Patients showed significantly decreased fractional amplitude of low-frequency fluctuations and increased wavelet entropy in the focal cortical dysplasia lesion and the perilesional zone (≤2 cm) relative to the contralateral homotopic cortex and the same regions in healthy controls. Regional homogeneity was significantly increased in the focal cortical dysplasia lesion compared with the contralateral homotopic cortex and healthy controls. CONCLUSIONS: Abnormalities in spontaneous blood oxygen level-dependent fluctuations were seen up to 2 cm distant from the radiologically visible boundary. It was demonstrated that functional boundaries go beyond structural boundaries of focal cortical dysplasia lesions. Validation is required to reveal whether this information is valuable for surgical planning and outcome evaluation of focal cortical dysplasia lesions and comparing current results with electrophysiologic analysis.

Seven cases of probable endotoxin poisoning related to contaminated glutathione infusions.

We report seven cases of probable endotoxin poisoning linked to contaminated compounded glutathione. Five of the cases were using the infusions for treatment of Lyme disease highlighting the risks of using compounded sterile preparations for unapproved indications, especially if the quality of source products cannot be assured.

Ketogenic diet in endocrine disorders: Current perspectives.

Ketogenic diet (KD) is a high-fat, adequate-protein, and low-carbohydrate diet that leads to nutritional ketosis, long known for antiepileptic effects and has been used therapeutically to treat refractory epilepsy. This review attempts to summarize the evidence and clinical application of KD in diabetes, obesity, and other endocrine disorders. KD is usually animal protein based. An empiric vegetarian Indian variant of KD has been provided keeping in mind the Indian food habits. KD has beneficial effects on cardiac ischemic preconditioning, improves oxygenation in patients with respiratory failure, improves glycemic control in diabetics, is associated with significant weight loss, and has a beneficial impact on polycystic ovarian syndrome. Multivitamin supplementations are recommended with KD. Recently, ketones are being proposed as super-metabolic fuel; and KD is currently regarded as apt dietary therapy for "diabesity."

Characteristics of the positive ion source at reduced gas feed.

The neutral beam injector of steady state superconducting tokamak (SST1-NBI) at IPR is designed for injecting upto 1.7 MW of neutral beam (Hº, 30-55 keV) power to the tokamak plasma for heating and current drive. Operations of the positive ion source (PINI or Plug-In-Neutral-Injector) of SST1-NBI were carried out on the NBI test stand. The PINI was operated at reduced gas feed rate of 2-3 Torr l/s, without using the high speed cryo pumps. Experiments were conducted to achieve a stable beam extraction by optimizing operational parameters namely, the arc current (120-300 A), acceleration voltage (16-40 kV), and a suitable control sequence. The beam divergence, power density profiles, and species fractions (H(+):H2(+):H3(+)) were measured by using the diagnostics such as thermal calorimetry, infrared thermography, and Doppler shift spectroscopy. The maximum extracted beam current was about 18 A. A further increase of beam current was found to be limited by the amount of gas feed rate to the ion source.

Evaluation of clinical features scoring system as screening tool for influenza A (H1N1) in epidemic situations.

BACKGROUND: Influenza A (H1N1) hit the headlines in recent times and created mass hysteria and general panic. The high cost and non-availability of diagnostic laboratory tests for swine flu, especially in the developing countries underlines the need of having a cheaper, easily available, yet reasonably accurate screening test. AIMS: This study was carried out to develop a clinical feature-based scoring system (CFSS) for influenza A (H1N1) and to evaluate its suitability as a screening tool when large numbers of influenza-like illness cases are suspect. SETTINGS AND DESIGN: Clinical-record based study, carried out retrospectively in post-pandemic period on subject's case-sheets who had been quarantined at IG International Airport's quarantine center at Delhi. MATERIALS AND METHODS: Clinical scoring of each suspected case was done by studying their case record sheet and compared with the results of RT-PCR. RT-PCR was used to confirm the diagnosis (Gold Standard). STATISTICAL ANALYSIS: We calculated sensitivity, specificity, positive and negative predictive values of the clinical feature-based scoring system (the proposed new screening tool) at different cut-off values. The most discriminant cut-off value was determined by plotting the ROC curve. RESULTS: Of the 638 suspected cases, 127 (20%) were confirmed to have H1N1 by RT-PCR examination. On the basis of ROC, the most discriminant clinical feature score for diagnosing Influenza A was found to be 7, which yielded sensitivity, specificity, positive, and negative predictive values of 86%, 88%, 64%, and 96%, respectively. CONCLUSION: The clinical features scoring system (CFSS) can be used as a valid and cost-effective tool for screening swine flu (influenza A (H1N1)) cases from large number of influenza-like illness suspects.

Use of tenecteplase for left-sided prosthetic valve thrombosis.

INTRODUCTION: Prosthetic valve thrombosis (PVT) following cardiac valve replacement in rheumatic heart disease patients is a common cause for referral to tertiary care centre. Although surgery has been described as the traditional choice of therapy, thrombolytic therapy has reported high success rates in published literature. CASE REPORT: This is a case report of ten patients with left-sided PVT receiving tenecteplase. The mean dose of tenecteplase used was 1.01 mg/kg given as IV bolus injection along with enoxaparin, heparin and acenocoumarol. The diagnosis and response was assessed based on trans-thoracic echocardiography. The reduction in peak transvalvular gradient was in the range of 46% - 81% and in mean transvalvular gradient was in the range of 50% - 84%. There was normalization of valve motion in all patients. There was no incidence of mortality, intracerebral hemorrhage, systemic bleeding or embolism. CONCLUSION: To our knowledge, this is the largest published evidence so far showing efficacy and safety of tenecteplase for PVT.

Long-term follow-up of patients with esophageal replacement by reversed gastric tube.

PURPOSE: Various surgical procedures are used for esophageal substitution in children. The purpose of this study was to evaluate the long-term outcome in children who underwent esophageal replacement by reversed gastric tube and to assess some aspects of the physiological function and behavior of the reversed gastric tube. METHODS: This study was a retrospective and prospective review of 16 patients who had undergone reversed gastric tube esophagoplasty between March 1990 and March 2009. Indications for esophageal replacement included esophageal atresia with or without fistula (10) and caustic injury (6). There were 10 boys and 6 girls. Age at the time of this study varied from 1.7-20 years. The interval between operation and follow-up varied; it was more than 3 months in all cases, with an average of 8 months. Follow-up studies included clinical evaluation, anthropometry, barium study (to look for anastomotic leak, stricture, passage of contrast, ulcer, diverticulum, peristalsis and emptying), neoesophagus motility patterns by manometry, 24-h pH monitoring and radionuclide studies (to investigate esophageal transit and gastric emptying times and gastroesophageal reflux). Statistical analysis was carried out using STATA 9.0 and continuous variables were compared between the tests using the Wilcoxon rank sum test. RESULTS: Of the 16 children, 12 were between the 3 (rd) and 97 (th) percentiles for weight and 10 were between the 3 (rd) and 97 (th) percentiles for height for their respective age group. 14 were eating and swallowing normally. 2 patients had slight swallowing difficulties with lumpy foods but did not require dilatations. None of our patients had respiratory problems. The children with corrosive stricture were almost normal in growth and development compared to esophageal atresia patients. Barium swallow showed normal swallowing in all patients and did not show gastroesophageal reflux. Mass contractions were seen in two-thirds of the patients on manometry. 24-h pH monitoring showed that the intraluminal pH remained consistently low, even long after operative treatment. Scintigraphy and barium swallow showed almost similar results except that scintigraphy was much more sensitive in detecting reflux. CONCLUSION: Almost all children remained asymptomatic and led a normal life. The function of the neoesophagus was good and growth and nutrition in the majority of patients was satisfactory.

Risk factors for ischemic heart disease in Delhi. (A prospective study of 7000 cases).

BACKGROUND: A prospective study of 7000 consecutive patients with IHD was carried out for "traditional" risk factors at the National Heart Institute (NHI) of the All India Heart Foundation (AIHF) and compared with 1000 "normal" controls. A specially designed proforma was used. STUDY GROUP: There were 5334 men (76%) and 1666 women (24%). The ages ranged from 24 to 92 years; above 60 (35%), between 51-60 (23%), 41-50 (22%) and below 40 (21.7%). The risk factor profile for the whole group was positive family history 38%, sedentary lifestyle 56%, overweight & obesity 21%, hypertension 64%, smoking 43% diabetes 39%, hypercholesterolemia 21% with no obvious risk factor in 15%. Those with no obvious risk factors could have had some of the "new" ones, which were not addressed. 2 & 3 risk factors were present in the majority (5618 patients 80%) and multiple risk factors in 96%. Hypertension was dominant in all groups. WOMEN: Significant differences were more, sedentary lifestyle, little or no smoking, higher cholesterol and more with no obvious risk factors. PRECOCIOUS IHD: In the 22% below 40 years, there was a significantly higher family history and smoking with significant prevalence of smoking, hypertension and diabetes. EXECUTIVE GROUP: The ages ranged from 24 to 59 with none above 60. There was no obvious risk factor in 55%. Here was a positive family history in 30.8%, sedentary lifestyle in 34%, smoking in 24.7%, hypertension in 16.5%, diabetes 11.8% and high cholesterol only in 5.6%. CONCLUSION: Multiple traditional risk factors were dominant in all the groups, with hypertension heading the list. Control of these, should be the target for all preventive programmes, targeting the general population and high risk groups.

Locus interactions underlie seed yield in soybeans resistant to Heterodera glycines.

In soybean (Glycine max L. Merr.) combining resistance to cyst nematode (SCN; Heterodera glycines I.) with high seed yield remains problematic. Molecular markers linked to quantitative trait loci (QTL) have not provided a solution. Sets of markers describing a collection of favorable alleles (linkats) may assist plant breeders seeking to combine both traits. The objective of this analysis was to identify linkats in genomic regions underlying seed yield and root SCN resistance QTL. Used were groups of cultivars selected from a single recombinant inbred (RIL) population derived from 'Essex' by 'Forrest' (ExF). The yield was measured at four locations. SCN resistance was determined in greenhouse assays. The mean seed yield was used to define 3 groups (each n = 30), high, medium and low. SCN resistance formed 2 groups (SCN resistant (n = 21) and SCN susceptible (n = 69)). Microsatellite markers (213) alleles were compared with seed yield and root SCN (Hetrodera glycines) resistance using mean analysis. The number, size and position of potential linkats were determined. Loci, genomic regions and linkats associated with seed yield were identified on linkage group (LG) K and with root resistance to SCN e on LG E, G, and D1b+W. A method to identify co-localized genomic regions is presented.

Role of hormonal genes and risk of prostate cancer: gene-gene interactions in a North Indian population.

Prostate cancer represents a heterogeneous disease with varying degrees of aggressiveness, patterns of metastasis, and response to therapy. It arises from a complex etiology that involves both exogenous (diet, environment, etc.) and endogenous (hormonal and genetic) factors. The present study was performed to explore the role of various genotypes involved in steroid metabolism and synthesis in the causation of prostate cancer. Genetic polymorphism of the ER, CYP17, SRD5A2 (TA repeats), and PSA genes were analyzed in 157 cases of prostate cancer and 340 controls [170 healthy males and 170 patients of benign prostate hyperplasia (BPH)]. Mutant genotypes of ER and CYP17 showed 2- and 3- and 3.5-fold increased risk of prostate cancer, respectively, as compared to BPH and healthy controls. Interaction of mutant (homozygous and heterozygous) alleles of CYP17 with TA (0/0) led to a twofold increased risk of prostate cancer. Risk was more than twofold with the combination of mutant alleles of ER and CYP17. The PSA gene polymorphism did not show any increased risk of prostate cancer. This indicates the role of mutant allele of ER and CYP17 in the development and progression of prostate cancer and rules out any increased risk with PSA polymorphism in the north Indian population.

Cell adherence--a determinant of virulence in Yersinia enterocolitica.

The adherence of pathogenic bacteria to eukaryotic cells plays a central role in their ability to colonize the mucosal epithelial surfaces. The adherence by Y. enterocolitica to the mucosal surface of the gut is the initiating event leading to penetration of mucosa. Adhesion of 10 probable pathogenic and one non-pathogenic isolate was studied using ileum and colon epithelial cells of mouse for 90 minutes. Adhesion study revealed that isolates of Y. enterocolitica had a good adhesive property while non pathogenic showed negligible adherence. All isolates showed better adherence to colon epithelial cells. The organism continued to be excreted in faeces up to 8-10 days after oral feeding. Adhesion positive isolates were found to be virulent when tested in mice for diarrhoea and death. Adhesion was found to be thermoregulated.

A rare case of Rosai-Dorfman disease of the paranasal sinuses.

An unusual case of a 6-year-old male child presenting with a history of bilateral nasal obstruction of 3 years duration is reported. Endoscopic surgery was performed and the specimen sent for histopathological examination. The report revealed the surprise diagnosis of Rosai-Dorfman disease. This case of isolated extranodal involvement (paranasal sinuses) by this disease is presented and the literature available reviewed.

Juvenile hyaline fibromatosis in siblings.

Juvenile hyaline fibromatosis (JHF) is a rare, autosomal recessively inherited disorder. We report two siblings with multiple large tumors on the scalp, translucent papules on the nape of the neck, hypertrophic gingiva, and severe flexural contractures of large joints. The histopathology from the skin lesions showed features characteristic of juvenile hyaline fibromatosis. The cases are being reported on account of the extreme rarity of the condition.